Ppargc1a^tm1Dpk
Targeted Allele Detail

Summary

• Symbol: Ppargc1a^tm1Dpk
• Name: peroxisome proliferative activated receptor, gamma, coactivator 1 alpha; targeted mutation 1, Daniel P Kelly
• MGI ID: MGI:3522468
• Synonyms: PGC-1alpha^-
• Gene: Ppargc1a Location: Chr5:51611592-51725068 bp, - strand Genetic Position: Chr5, 27.02 cM, cytoband C1
• Alliance: Ppargc1a^tm1Dpk page

Hepatic steatosis develops in fasted Ppargc1a^tm1Dpk/Ppargc1a^tm1Dpk mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:96306
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Other
• Mutation details: The targeting event for this knock-out resulted in a 3 prime end recombination and an insertion on the 5 prime end causing an additional exon 3 in the allele downstream of exon 5. This additional exon 3 causes a premature stop codon at amino acid 255 and an unstable transcript (no smaller proteins were identified by Western blot analysis). RT-PCR, Northern and Western blot analysis confirmed the absence of a stable transcript and no detectable protein. (J:96306)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	16 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ppargc1a Mutation: 48 strains or lines available

References

• Original: J:96306 Leone TC, et al., PGC-1alpha Deficiency Causes Multi-System Energy Metabolic Derangements: Muscle Dysfunction, Abnormal Weight Control and Hepatic Steatosis. PLoS Biol. 2005 Mar 15;3(4):e101
• All: 26 reference(s)